S43C (p.Ser43Cys) variant of RIT1 (GTP-binding protein Rit1)
S43C (p.Ser43Cys) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S43C (p.Ser43Cys) variant details
- p.Ser43Cys
- gnomAD 1-155910486-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.69
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available